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Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.
Makkonen K, Jännäri M, Crisóstomo L, Kuusi M, Patyra K, Melnyk V, Linnossuo V, Ojala J, Ravi R, Löf C, Mäkelä JA, Miettinen P, Laakso S, Ojaniemi M, Jääskeläinen J, Laakso M, Bossowski F, Sawicka B, Stożek K, Bossowski A, Kleinau G, Scheerer P, FinnGen F, Reeve MP, Kero J. Makkonen K, et al. Among authors: miettinen p. JCI Insight. 2024 Jan 9;9(4):e167092. doi: 10.1172/jci.insight.167092. JCI Insight. 2024. PMID: 38194289 Free article.
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
Löf C, Patyra K, Kuulasmaa T, Vangipurapu J, Undeutsch H, Jaeschke H, Pajunen T, Kero A, Krude H, Biebermann H, Kleinau G, Kühnen P, Rantakari K, Miettinen P, Kirjavainen T, Pursiheimo JP, Mustila T, Jääskeläinen J, Ojaniemi M, Toppari J, Ignatius J, Laakso M, Kero J. Löf C, et al. Among authors: miettinen p. Thyroid. 2016 Sep;26(9):1215-24. doi: 10.1089/thy.2016.0016. Epub 2016 Aug 2. Thyroid. 2016. PMID: 27373559 Free PMC article.
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.
Vieira P, Nagy II, Rahikkala E, Väisänen ML, Latva K, Kaunisto K, Valmari P, Keski-Filppula R, Haanpää MK, Sidoroff V, Miettinen PJ, Arkkola T, Ojaniemi M, Nuutinen M, Uusimaa J, Myllynen P. Vieira P, et al. Among authors: miettinen pj. J Inherit Metab Dis. 2022 Mar;45(2):223-234. doi: 10.1002/jimd.12446. Epub 2021 Nov 11. J Inherit Metab Dis. 2022. PMID: 34622459
Clinical, Genetic, and Biochemical Characteristics of Early-Onset Diabetes in the Finnish Population.
Huopio H, Miettinen PJ, Ilonen J, Nykänen P, Veijola R, Keskinen P, Näntö-Salonen K, Vangipurapu J, Raivo J, Stančáková A, Männistö J, Kuulasmaa T, Knip M, Otonkoski T, Laakso M. Huopio H, et al. Among authors: miettinen pj. J Clin Endocrinol Metab. 2016 Aug;101(8):3018-26. doi: 10.1210/jc.2015-4296. Epub 2016 May 11. J Clin Endocrinol Metab. 2016. PMID: 27167055
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN. Patel KA, et al. Nat Commun. 2017 Oct 12;8(1):888. doi: 10.1038/s41467-017-00895-9. Nat Commun. 2017. PMID: 29026101 Free PMC article.
Motivational Interviewing and Glycemic Control in Adolescents With Poorly Controlled Type 1 Diabetes: A Randomized Controlled Pilot Trial.
Tuomaala AK, Hero M, Tuomisto MT, Lähteenmäki M, Miettinen PJ, Laine T, Wehkalampi K, Kiiveri S, Ahonen P, Ojaniemi M, Kaunisto K, Tossavainen P, Lapatto R, Sarkola T, Pulkkinen MA. Tuomaala AK, et al. Among authors: miettinen pj. Front Endocrinol (Lausanne). 2021 Mar 12;12:639507. doi: 10.3389/fendo.2021.639507. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 33776935 Free PMC article. Clinical Trial.
Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.
Harsunen M, Kettunen JLT, Härkönen T, Dwivedi O, Lehtovirta M, Vähäsalo P, Veijola R, Ilonen J, Miettinen PJ, Knip M, Tuomi T. Harsunen M, et al. Among authors: miettinen pj. Diabetologia. 2023 Mar;66(3):438-449. doi: 10.1007/s00125-022-05834-y. Epub 2022 Nov 23. Diabetologia. 2023. PMID: 36418577 Free PMC article.
245 results